A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln].

作者信息

Rizzi Mattia, Zurbriggen Karin, Schmid Marlis, Goede Jeroen S, Nardi Michael A, Schmugge Markus, Speer Oliver

机构信息

Division of Haematology, University Children's Hospital, Zürich, Switzerland.

出版信息

Hemoglobin. 2011;35(4):417-22. doi: 10.3109/03630269.2011.594138.

A 2½-year-old male child and a 23-year-old woman with no clinical symptoms were investigated during routine consultations. Cation exchange high performance liquid chromatography (HPLC) revealed an additional peak eluting before Hb A. DNA sequencing showed a novel heterozygous mutation at codon 20 of the α1-globin gene. The hemoglobin (Hb) variant was named Hb Brugg. Analysis of oxygen affinity Hb and Hb stability did not show any changes compared to normal Hb constellation.